Brachydactyly type A2 associated with a defect in proGDF5 processing.
about
Biophysical and structural characterization of a folded core domain within the proregion of growth and differentiation factor-5The pro-form of BMP-2 interferes with BMP-2 signalling by competing with BMP-2 for IA receptor bindingA GDF5 point mutation strikes twice--causing BDA1 and SYNS2New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistanceTGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and diseaseIncomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypesMutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGINFunctional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383.Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2).Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.Mechanisms of digit formation: Human malformation syndromes tell the story.Insights from human genetic studies into the pathways involved in osteoarthritis.Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?Preparation and Evaluation of Dexamethasone (DEX)/Growth and Differentiation Factor-5 (GDF-5) Surface-Modified Titanium Using β-Cyclodextrin-Conjugated Heparin (CD-Hep) for Enhanced Osteogenic Activity In Vitro and In Vivo.Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family.Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.Attenuation of bone morphogenetic protein signaling during amphibian limb development results in the generation of stage-specific defects.PRMT5 is essential for the maintenance of chondrogenic progenitor cells in the limb bud.Knock-in human GDF5 proregion L373R mutation as a mouse model for proximal symphalangism.Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.Genetic advances in craniosynostosis.
P2860
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P2860
Brachydactyly type A2 associated with a defect in proGDF5 processing.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Brachydactyly type A2 associated with a defect in proGDF5 processing.
@en
Brachydactyly type A2 associated with a defect in proGDF5 processing.
@nl
type
label
Brachydactyly type A2 associated with a defect in proGDF5 processing.
@en
Brachydactyly type A2 associated with a defect in proGDF5 processing.
@nl
prefLabel
Brachydactyly type A2 associated with a defect in proGDF5 processing.
@en
Brachydactyly type A2 associated with a defect in proGDF5 processing.
@nl
P2093
P2860
P356
P1476
Brachydactyly type A2 associated with a defect in proGDF5 processing.
@en
P2093
Frank Plöger
Jörg Seidel
Katarina Lehmann
Klaus W Kjaer
Mareen Schmidt-von Kegler
Stefan Mundlos
P2860
P304
P356
10.1093/HMG/DDN012
P577
2008-01-18T00:00:00Z